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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder
It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD phenotypes. Array comparative genomic hybridization (aCGH) and exome sequencing, togethe...
Autores principales: | Reis, Viviane Neri de Souza, Kitajima, João Paulo, Tahira, Ana Carolina, Feio-dos-Santos, Ana Cecília, Fock, Rodrigo Ambrósio, Lisboa, Bianca Cristina Garcia, Simões, Sérgio Nery, Krepischi, Ana C. V., Rosenberg, Carla, Lourenço, Naila Cristina, Passos-Bueno, Maria Rita, Brentani, Helena |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5261619/ https://www.ncbi.nlm.nih.gov/pubmed/28118382 http://dx.doi.org/10.1371/journal.pone.0170386 |
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